A New Mutation in Blau Syndrome

Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis. Blau syndrome is related to mutations located at the 16q12.2–13 gene locus. To date, 11 NOD2 gene mut...

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Autores principales: Zeybek, Cengiz, Basbozkurt, Gokalp, Gul, Davut, Demirkaya, Erkan, Gok, Faysal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322824/
https://www.ncbi.nlm.nih.gov/pubmed/25692065
http://dx.doi.org/10.1155/2015/463959
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author Zeybek, Cengiz
Basbozkurt, Gokalp
Gul, Davut
Demirkaya, Erkan
Gok, Faysal
author_facet Zeybek, Cengiz
Basbozkurt, Gokalp
Gul, Davut
Demirkaya, Erkan
Gok, Faysal
author_sort Zeybek, Cengiz
collection PubMed
description Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis. Blau syndrome is related to mutations located at the 16q12.2–13 gene locus. To date, 11 NOD2 gene mutations causing Blau syndrome have been described. Here, we describe a 5-year-old male patient who presented with Blau syndrome associated with a novel sporadic gene mutation that has not been reported previously.
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spelling pubmed-43228242015-02-17 A New Mutation in Blau Syndrome Zeybek, Cengiz Basbozkurt, Gokalp Gul, Davut Demirkaya, Erkan Gok, Faysal Case Rep Rheumatol Case Report Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis. Blau syndrome is related to mutations located at the 16q12.2–13 gene locus. To date, 11 NOD2 gene mutations causing Blau syndrome have been described. Here, we describe a 5-year-old male patient who presented with Blau syndrome associated with a novel sporadic gene mutation that has not been reported previously. Hindawi Publishing Corporation 2015 2015-01-27 /pmc/articles/PMC4322824/ /pubmed/25692065 http://dx.doi.org/10.1155/2015/463959 Text en Copyright © 2015 Cengiz Zeybek et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Zeybek, Cengiz
Basbozkurt, Gokalp
Gul, Davut
Demirkaya, Erkan
Gok, Faysal
A New Mutation in Blau Syndrome
title A New Mutation in Blau Syndrome
title_full A New Mutation in Blau Syndrome
title_fullStr A New Mutation in Blau Syndrome
title_full_unstemmed A New Mutation in Blau Syndrome
title_short A New Mutation in Blau Syndrome
title_sort new mutation in blau syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322824/
https://www.ncbi.nlm.nih.gov/pubmed/25692065
http://dx.doi.org/10.1155/2015/463959
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